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NM_001429.4(EP300):c.4452+5G>T

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2018)
Last evaluated:
May 19, 2017
Accession:
VCV000559899.1
Variation ID:
559899
Description:
single nucleotide variant
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NM_001429.4(EP300):c.4452+5G>T

Allele ID
550646
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.2
Genomic location
22: 41170576 (GRCh38) GRCh38 UCSC
22: 41566580 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1422:g.82967G>T
LRG_1422t1:c.4452+5G>T
NC_000022.10:g.41566580G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:41170575:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555911334
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 19, 2017 RCV000677692.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EP300 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
650 675

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 19, 2017)
criteria provided, single submitter
Method: clinical testing
Rubinstein-Taybi syndrome 2
Allele origin: de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Study: Clinvar_gadteam_Clinical_exome_analysis_3
Accession: SCV000803839.1
Submitted: (Feb 06, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1555911334...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021